Genetic test determines breast cancer risk for men and women

For most women, the risk of developing breast cancer over a lifetime is 12 percent. For women who carry the BRCA1 or BRCA2 mutation, that risk multiplies to close to 87 percent. In choosing a prophylactic bilateral mastectomy, Hollywood star Angelina Jolie reduced her risk to below 5 percent. "It's very low. There's always microscopic tissue left behind. It's not zero, but it gives these women peace of mind," said Laurie Jesz, RN, a breast cancer navigator with Bon Secours Health Center at Harbour View in Suffolk.

The genes also increase the risk for ovarian cancer in women and breast and prostate cancer in men, as well as for some rare cancers, such as pancreatic.

BRCA gene testing has been available since the 1990s, but it's only recently that its use has become widespread, said Jesz. She credited the increase to insurance companies now covering the $3,000 test for those designated as high risk — though not for the general population — and to a 2008 federal law that prohibits insurance discrimination against those patients.

The guidelines for genetic testing are set by the National Comprehensive Cancer Network, said Jessa Blount, a certified genetic counselor with Sentara Medical Group. The red flags for hereditary cancer, which accounts for only 5 to 10 percent of cases, include family members diagnosed with cancer before age 50, when a family member has had more than one type of cancer, and when multiple generations of a family have had breast and ovarian cancer. Of those hereditary cases, BRCA mutations account for almost 70 percent.

Between one in 100 and 1,000 carry the gene, according to Kimberly Schlesinger, medical director of the Breast Cancer Program at Riverside Regional Medical Center in Newport News. Certain ethnic groups, including Jewish women of Ashkenazi heritage, carry a higher risk for it than others, she said. For children of a parent with the mutation, their individual risk is 50 percent.

The testing of children of those carrying the BRCA gene is not recommended until after age 18. For Blount, the standard age is 25, or 10 years younger than the earliest family member diagnosed.

For a significant percentage of breast cancers there's a familial risk that's not attributable to just one gene, she said. In these cases, a detailed family history can help identify a predisposition and also leads to more intensive screening. "The main benefit is in knowing we need to tailor the medical management," she said.

Additional surveillance can include 6-monthly screenings, alternating a mammogram and an MRI; it may also include ultrasounds and a blood test for ovarian cancer, said Jesz.

To escape the increased risk of ovarian cancer, for which there is no definitive screening and for which the symptoms can be vague, removal of the ovaries by 40 is typically recommended. "Chemoprevention" is another option. "It's an anti-hormone. If someone tests positive for BRCA and wants to keep their breasts, they can use medication that reduces the risk by 50 percent," said Schlesinger. It's delivered in the form of a daily pill and can be taken for up to five years, but is contraindicated during pregnancy.

Then there's the prophylactic mastectomy that many women choose. "These women may have seen many, many women in their families die from breast cancer. They have often seen terrible suffering," said Jesz.

Mary Beth Gibson, co-founder and executive director of Beyond Boobs!, a Williamsburg-based support group for young breast cancer survivors, was diagnosed seven years ago at age 41. She had a family history, but was only tested for the BRCA gene — she was negative — after her initial diagnosis. She still opted for a double mastectomy. "The monitoring didn't work well. My 41/2-centimeter tumor didn't show up on a mammogram. I didn't want to put myself through six-month anxiety," she said.

Meanwhile Keesha Wells-Croom, 36, program manager for the support group, had no family history but carried the BRCA gene. She discovered a lump while breast-feeding her fourth child. After her diagnosis and the results of the genetic tests, she deliberated for just a couple of days before opting for a double mastectomy and a total hysterectomy to minimize her risks. She plans to give her children all the appropriate information when they turn 18 and let them make the decision about testing for themselves.